期刊
GENETICS IN MEDICINE
卷 18, 期 7, 页码 727-736出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2015.160
关键词
CDKN2A; familial; Latin America; melanoma; MC1R
资金
- GenoMEL [LSHC-CT-2006-018702]
- National Cancer Institute of the US National Institutes of Health [CA83115]
- Fondo de Investigaciones Sanitarias, Spain [03/0019, 05/0302, 06/0265, 09/1393, 12/00840]
- CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
- Catalan Government, Spain [AGAUR 2014_SGR_603]
- European Commission
- Instituto de Salud Carlos III, Spain
- Consejo Nacional de Ciencia y Tecnologia (CONACYT), Mexico [152256/158706]
- Fundacao para o Amparo da Pesquisa do Estado de Sao Paulo (FAPESP), Sao Paulo, Brazil [2007/04313-2]
- Brazilian Post-Graduation Agency Capes (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior)
- Comision Honoraria de Lucha Contra el Cancer and Fundacion Manuel Perez, Montevideo, Uruguay
Purpose: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. Methods: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. Results: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. Conclusion: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first-or second-degree relatives.
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